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Links from MedGen

Items: 1 to 100 of 1312

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
NSD1
(N1729H +4 more)
Single nucleotide variant
(missense variant +1 more)
Sotos syndrome
GLikely pathogenic
NSD1
(R1714P +4 more)
Single nucleotide variant
(missense variant +1 more)
Sotos syndrome
GPathogenic
NSD1
(K2398R +5 more)
Single nucleotide variant
(missense variant)
Sotos syndrome
GUncertain significance
NSD1
(W2276S +5 more)
Single nucleotide variant
(missense variant)
Sotos syndrome
GUncertain significance
NSD1
(S2397T +5 more)
Single nucleotide variant
(missense variant)
Sotos syndrome
GUncertain significance
NSD1
Deletion
Sotos syndrome
GUncertain significance
NSD1
(G2388A +5 more)
Single nucleotide variant
(missense variant)
Sotos syndrome
GUncertain significance
NSD1
(G2381E +5 more)
Single nucleotide variant
(missense variant)
Sotos syndrome
GUncertain significance
NSD1
(K2338E +5 more)
Single nucleotide variant
(missense variant)
Sotos syndrome
GUncertain significance
NSD1
(L2352fs +5 more)
Microsatellite
(frameshift variant)
Sotos syndrome
GUncertain significance
NSD1
(R2227K +5 more)
Single nucleotide variant
(missense variant)
Sotos syndrome
GUncertain significance
NSD1
(P2574A +5 more)
Single nucleotide variant
(missense variant)
Sotos syndrome
GUncertain significance
NSD1
(S2317N +5 more)
Single nucleotide variant
(missense variant)
Sotos syndrome
GUncertain significance
NSD1
(R2537S +5 more)
Single nucleotide variant
(missense variant)
Sotos syndrome
GLikely benign
NSD1
(A2529P +5 more)
Single nucleotide variant
(missense variant)
Sotos syndrome
GUncertain significance
NSD1
(E2384K +5 more)
Single nucleotide variant
(missense variant)
Sotos syndrome
GUncertain significance
NSD1
(S2142P +5 more)
Single nucleotide variant
(missense variant)
Sotos syndrome
GUncertain significance
NSD1
(L2084P +5 more)
Single nucleotide variant
(missense variant)
Sotos syndrome
GUncertain significance
NSD1
(A2180T +5 more)
Single nucleotide variant
(missense variant)
Sotos syndrome
GUncertain significance
NSD1
(R2277G +5 more)
Single nucleotide variant
(missense variant)
Sotos syndrome
GUncertain significance
NSD1
Single nucleotide variant
(synonymous variant)
Sotos syndrome
GUncertain significance
NSD1
Single nucleotide variant
(synonymous variant)
Sotos syndrome
GUncertain significance
NSD1
(L2159V +5 more)
Single nucleotide variant
(missense variant)
Sotos syndrome
GUncertain significance
NSD1
(A1977V +5 more)
Single nucleotide variant
(missense variant)
Sotos syndrome
GUncertain significance
NSD1
(K2266E +6 more)
Single nucleotide variant
(missense variant)
Sotos syndrome
GUncertain significance
NSD1
(A1965S +5 more)
Single nucleotide variant
(missense variant)
Sotos syndrome
GUncertain significance
NSD1
Single nucleotide variant
(synonymous variant)
Sotos syndrome
GLikely benign
NSD1
(S1942G +5 more)
Single nucleotide variant
(missense variant)
Sotos syndrome
GUncertain significance
NSD1
Single nucleotide variant
(synonymous variant)
Sotos syndrome
GUncertain significance
NSD1
(V1877I +5 more)
Single nucleotide variant
(missense variant)
Sotos syndrome
GUncertain significance
NSD1
Single nucleotide variant
(synonymous variant)
Sotos syndrome
GUncertain significance
NSD1
(I1836V +5 more)
Single nucleotide variant
(missense variant)
Sotos syndrome
GUncertain significance
NSD1
Single nucleotide variant
(intron variant)
Sotos syndrome
GUncertain significance
NSD1
(D1756Y +4 more)
Single nucleotide variant
(missense variant +1 more)
Sotos syndrome
GUncertain significance
NSD1
(G1637R +4 more)
Single nucleotide variant
(missense variant)
Sotos syndrome
GUncertain significance
NSD1
(C1657* +4 more)
Indel
(nonsense)
Sotos syndrome
GLikely pathogenic
NSD1
Single nucleotide variant
(intron variant)
Sotos syndrome
GUncertain significance
NSD1
(A1590T +4 more)
Single nucleotide variant
(missense variant)
Sotos syndrome
GUncertain significance
LOC126807619, NSD1
(K1532R +4 more)
Single nucleotide variant
(missense variant)
Sotos syndrome
GUncertain significance
NSD1
(K1426E +4 more)
Single nucleotide variant
(missense variant)
Sotos syndrome
GUncertain significance
NSD1
(M1337V +4 more)
Single nucleotide variant
(missense variant)
Sotos syndrome
GUncertain significance
NSD1
(E1364A +4 more)
Single nucleotide variant
(missense variant)
Sotos syndrome
GUncertain significance
NSD1
(H1362D +4 more)
Single nucleotide variant
(missense variant)
Sotos syndrome
GUncertain significance
NSD1
(E1601K +4 more)
Single nucleotide variant
(missense variant)
Sotos syndrome
GUncertain significance
NSD1
(G1233R +3 more)
Single nucleotide variant
(missense variant)
Sotos syndrome
GUncertain significance
NSD1
Single nucleotide variant
(synonymous variant)
Sotos syndrome
GUncertain significance
NSD1
(P1496R +3 more)
Single nucleotide variant
(missense variant)
Sotos syndrome
GUncertain significance
NSD1
(K1193E +3 more)
Single nucleotide variant
(missense variant)
Sotos syndrome
GUncertain significance
NSD1
(R1224K +3 more)
Single nucleotide variant
(missense variant)
Sotos syndrome
GUncertain significance
NSD1
(R1222Q +3 more)
Single nucleotide variant
(missense variant)
Sotos syndrome
GLikely benign
NSD1
(F1465S +3 more)
Single nucleotide variant
(missense variant)
Sotos syndrome
GUncertain significance
NSD1
(C1158S +3 more)
Single nucleotide variant
(missense variant)
Sotos syndrome
GUncertain significance
NSD1
(S1157Y +3 more)
Single nucleotide variant
(missense variant)
Sotos syndrome
GUncertain significance
NSD1
(L1082F +3 more)
Single nucleotide variant
(missense variant)
Sotos syndrome
GUncertain significance
NSD1
(R1171L +3 more)
Single nucleotide variant
(missense variant)
Sotos syndrome
GUncertain significance
NSD1
(D998N +3 more)
Single nucleotide variant
(missense variant)
Sotos syndrome
GUncertain significance
NSD1
(R1268W +3 more)
Single nucleotide variant
(missense variant)
Sotos syndrome
GUncertain significance
NSD1
(S950I +3 more)
Single nucleotide variant
(missense variant)
Sotos syndrome
GUncertain significance
NSD1
(C946Y +3 more)
Single nucleotide variant
(missense variant)
Sotos syndrome
GUncertain significance
NSD1
(D1054del +3 more)
Deletion
Sotos syndrome
GUncertain significance
NSD1
Insertion
Sotos syndrome
GUncertain significance
NSD1
(R876C +3 more)
Single nucleotide variant
(missense variant)
Sotos syndrome
GUncertain significance
NSD1
(R1019Q +3 more)
Single nucleotide variant
(missense variant)
Sotos syndrome
GUncertain significance
NSD1
(N1012S +3 more)
Single nucleotide variant
(missense variant)
Sotos syndrome
GUncertain significance
NSD1
(N894S +3 more)
Single nucleotide variant
(missense variant)
Sotos syndrome
GUncertain significance
NSD1
(K834E +3 more)
Single nucleotide variant
(missense variant)
Sotos syndrome
GUncertain significance
NSD1
(G811R +3 more)
Single nucleotide variant
(missense variant)
Sotos syndrome
GUncertain significance
NSD1
(L800V +3 more)
Single nucleotide variant
(missense variant)
Sotos syndrome
GUncertain significance
NSD1
(G1075R +3 more)
Single nucleotide variant
(missense variant)
Sotos syndrome
GUncertain significance
NSD1
(R1074S +3 more)
Single nucleotide variant
(missense variant)
Sotos syndrome
GUncertain significance
NSD1
(P949L +3 more)
Single nucleotide variant
(missense variant)
Sotos syndrome
GUncertain significance
NSD1
(D692N +3 more)
Single nucleotide variant
(missense variant)
Sotos syndrome
GUncertain significance
NSD1
(R635Q +3 more)
Single nucleotide variant
(missense variant)
Sotos syndrome
GLikely benign
NSD1
(K624N +3 more)
Single nucleotide variant
(missense variant)
Sotos syndrome
GUncertain significance
NSD1
(T909A +4 more)
Single nucleotide variant
(missense variant)
Sotos syndrome
GUncertain significance
NSD1
(P609L +3 more)
Single nucleotide variant
(missense variant)
Sotos syndrome
GUncertain significance
NSD1
(P760R +3 more)
Single nucleotide variant
(missense variant)
Sotos syndrome
GUncertain significance
NSD1
(S879F +3 more)
Single nucleotide variant
(missense variant)
Sotos syndrome
GUncertain significance
NSD1
(R579G +3 more)
Single nucleotide variant
(missense variant)
Sotos syndrome
GUncertain significance
NSD1
(D543N +3 more)
Single nucleotide variant
(missense variant)
Sotos syndrome
GUncertain significance
NSD1
(I536V +3 more)
Single nucleotide variant
(missense variant)
Sotos syndrome
GUncertain significance
NSD1
(K522Q +3 more)
Single nucleotide variant
(missense variant)
Sotos syndrome
GUncertain significance
NSD1
(E808K +3 more)
Single nucleotide variant
(missense variant)
Sotos syndrome
GUncertain significance
NSD1
(M509V +3 more)
Single nucleotide variant
(missense variant)
Sotos syndrome
GUncertain significance
NSD1
(V508L +3 more)
Single nucleotide variant
(missense variant)
Sotos syndrome
GUncertain significance
NSD1
(G520R +3 more)
Single nucleotide variant
(missense variant)
Sotos syndrome
GUncertain significance
NSD1
(I517V +3 more)
Single nucleotide variant
(missense variant)
Sotos syndrome
GUncertain significance
NSD1
(A447G +3 more)
Single nucleotide variant
(missense variant)
Sotos syndrome
GUncertain significance
NSD1
(R437M +3 more)
Single nucleotide variant
(missense variant)
Sotos syndrome
GUncertain significance
NSD1
(S547C +3 more)
Single nucleotide variant
(missense variant)
Sotos syndrome
GUncertain significance
NSD1
(M675V +3 more)
Single nucleotide variant
(missense variant)
Sotos syndrome
GUncertain significance
NSD1
(I414V +3 more)
Single nucleotide variant
(missense variant)
Sotos syndrome
GUncertain significance
NSD1
(E406G +3 more)
Single nucleotide variant
(missense variant)
Sotos syndrome
GUncertain significance
NSD1
(D337G +3 more)
Single nucleotide variant
(missense variant)
Sotos syndrome
GUncertain significance
NSD1
(C615S +3 more)
Single nucleotide variant
(missense variant)
Sotos syndrome
GUncertain significance
NSD1
(Q470E +3 more)
Single nucleotide variant
(missense variant)
Sotos syndrome
GUncertain significance
NSD1
(N335S +3 more)
Single nucleotide variant
(missense variant)
Sotos syndrome
GUncertain significance
NSD1
(F279C +3 more)
Single nucleotide variant
(missense variant)
Sotos syndrome
GUncertain significance
NSD1
(A415T +3 more)
Single nucleotide variant
(missense variant)
Sotos syndrome
GUncertain significance
NSD1
(I554T +3 more)
Single nucleotide variant
(missense variant)
Sotos syndrome
GUncertain significance
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